CAJ | 학술논문

目的鉴定中国汉族人群中新发现的一个HLA-C无效等位基因,并对国际上业已公布的HLA-C无效等位基因的突变情况进行分析.方法采用分子克隆和单倍体测序的方法,鉴定1例HLA-C基因测序分型结果异常样本的分子生物学基础.结果检出了一个C*01新变异等位基因,其序列与C*01∶02∶01最相近,但存在编码区nt 363 G＞A点突变,位于第三外显子的第97密码子由TGG直接变成终止密码子TGA,导致一个无效等位基因,其序列提交国际GenBank(序列号:GU592508)和IMGT/HLADatabase(HWS10010188).结论该无效等位基因已被世界卫生组织(WHO)HLA因子命名委员会正式命名为C*01∶37N.
목적 감정중국한족인군중신발현적일개HLA-C무효등위기인,병대국제상업이공포적HLA-C무효등위기인적돌변정황진행분석.방법 채용분자극륭화단배체측서적방법,감정1례HLA-C기인측서분형결과이상양본적분자생물학기출.결과 검출료일개C*01신변이등위기인,기서렬여C*01∶02∶01최상근,단존재편마구nt 363 G＞A점돌변,위우제삼외현자적제97밀마자유TGG직접변성종지밀마자TGA,도치일개무효등위기인,기서렬제교국제GenBank(서렬호:GU592508)화IMGT/HLADatabase(HWS10010188).결론 해무효등위기인이피세계위생조직(WHO)HLA인자명명위원회정식명명위C*01∶37N.
Objective To identify a novel HLA-C null allele in a Chinese Han individual and characterize the nucleotides mutations of HLA-C null alleles reported currently. Methods The molecular basis of a sample with inconclusive sequencing result was clarified by traditional cloning and haplotype sequencing. Results A novel HLA-C * 01 variant allele was identified. Its sequence was very similar to allele C * 01∶02∶01. There was a single nucleotide mutation at the coding sequence nt 363 G＞ A (codon 97TGG＞TGA) in exon 3. The genomic sequence of this novel allele was submitted to GenBank with the accession number GU592508 and the IMGT/HLA Database (HWS10010188). Conclusions The novel variant null allele has been officially named C * 01∶37N by the WHO Nomenclature Committee for factors of the HLA System.